Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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116285 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Acyl-CoA synthetase medium chain family member 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ACSM1 |
SynonymsGene synonyms aliases
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BUCS1, MACS1 |
ChromosomeChromosome number
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16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16p12.3 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q08AH1 |
Protein name |
Acyl-coenzyme A synthetase ACSM1, mitochondrial (EC 6.2.1.2) (Acyl-CoA synthetase medium-chain family member 1) (Benzoate--CoA ligase) (EC 6.2.1.25) (Butyrate--CoA ligase 1) (Butyryl-coenzyme A synthetase 1) (Lipoate-activating enzyme) (Middle-chain acyl- |
Protein function |
Catalyzes the activation of fatty acids by CoA to produce an acyl-CoA, the first step in fatty acid metabolism (PubMed:10434065). Capable of activating medium-chain fatty acids (e.g. butyric (C4) to decanoic (C10) acids), and certain carboxylate |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00501 |
AMP-binding |
62 → 475 |
AMP-binding enzyme |
Family |
PF13193 |
AMP-binding_C |
483 → 563 |
AMP-binding enzyme C-terminal domain |
Domain |
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Sequence |
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Sequence length |
577 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Lung cancer |
Malignant neoplasm of lung |
rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 |
17114358 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
20185149, 25656805 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Lung neoplasms |
Lung Neoplasms |
|
17114358 |
Mental depression |
Unipolar Depression, Major Depressive Disorder |
rs587778876, rs587778877 |
25656805 |
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